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Major advances have occurred in the study of biochemistry and metabolic diseases and Penn Medicine is leading the effort in evaluation, diagnosis and treatment for patients with these suspected genetic disorders. Our clinic offers specialized care for the following:

  • amino acid disorders
  • organic acid disorders
  • fatty acid disorders
  • mitochondrial diseases
  • lysosomal storage disorders

Additionally, treatments such as infusion therapy can help relieve symptoms of some types of lysosomal storage diseases such as Gaucher disease and Fabry disease.

As part of an evaluation in this clinic, a thorough medical and family history will be taken, a physical examination will be performed and laboratory studies may be performed. Patients can have labs performed at Penn or orders can be placed to the patient’s preferred lab. Genetic testing can also be coordinated as necessary which may include a meeting with a genetic counselor or nurse practitioner.

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